Autosomal recessive hereditary disorder	Congenital atresia of intestinal tract	Congenital hypoplasia of gallbladder	Congenital hypoplasia of pancreas	Developmental hereditary disorder	Digestive system hereditary disorder	Hereditary disorder of endocrine system	Multiple system malformation syndrome
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Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)
	Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome
	Hypoplastic pancreas, intestinal atresia, hypoplastic gallbladder syndrome
	A rare potentially fatal genetic visceral malformation syndrome characterized by neonatal diabetes, hypoplastic or annular pancreas, duodenal and jejunal atresia as well as gallbladder aplasia or hypoplasia. Patients typically present intrauterine growth restriction, failure to thrive, malnutrition, intestinal malrotation, malabsorption, conjugated hyperbilirubinemia, acholia and infections. Cardiac anomalies may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RFX6 gene on chromosome 6q22.
	syndroom van hypoplasie van pancreas, darmatresie en hypoplasie van galblaas
	syndroom van hypoplastische pancreas, intestinale atresie en hypoplastische galblaas

Id	773673002
Status	Primitive

Associated morphology	Hypoplasia
Finding site	Pancreatic structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Congenital atresia
Finding site	Intestinal structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Gallbladder structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q45.0
Rule	TRUE
Advice	ALWAYS Q45.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q41.9
Rule	TRUE
Advice	ALWAYS Q41.9
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q44.0
Rule	TRUE
Advice	ALWAYS Q44.0
Correlation	SNOMED CT source code to target map code correlation not specified